Variant report

Variant	rs1032180
Chromosome Location	chr15:59479689-59479690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1032178	0.82[ASN][1000 genomes]
rs1032179	0.85[ASN][1000 genomes]
rs1032181	0.85[ASN][1000 genomes]
rs1032182	0.96[CEU][hapmap];0.82[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs10519001	0.86[CHB][hapmap]
rs11071412	0.83[ASN][1000 genomes]
rs11634752	0.83[MEX][hapmap]
rs12898305	0.82[EUR][1000 genomes]
rs12915115	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17269566	0.82[ASN][1000 genomes]
rs2029212	0.85[ASN][1000 genomes]
rs2129426	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2171286	0.85[ASN][1000 genomes]
rs2306788	0.86[CHB][hapmap]
rs34412930	0.82[EUR][1000 genomes]
rs35227552	0.83[ASN][1000 genomes]
rs3794494	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs3794497	0.84[ASN][1000 genomes]
rs3809530	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs3825937	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs4775123	0.85[ASN][1000 genomes]
rs4775124	0.83[ASN][1000 genomes]
rs7162863	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7170182	0.87[GIH][hapmap]
rs7178908	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7182279	0.82[EUR][1000 genomes]
rs901481	0.80[ASN][1000 genomes]
rs9788755	0.82[ASN][1000 genomes]
rs999139	0.82[EUR][1000 genomes]
rs999140	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1035868	chr15:59402426-59530594	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv833027	chr15:59474806-59608544	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1032180	GCOM1	cis	parietal	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59437800-59484400	Weak transcription	Fetal Brain Male	brain
2	chr15:59454000-59482000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:59464400-59496800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:59467800-59523200	Weak transcription	Fetal Brain Female	brain
5	chr15:59468000-59479800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:59468000-59480000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:59468200-59528600	Weak transcription	Stomach Mucosa	stomach
8	chr15:59468600-59521400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr15:59468800-59490800	Strong transcription	Duodenum Mucosa	Duodenum
10	chr15:59468800-59492600	Strong transcription	Fetal Intestine Large	intestine
11	chr15:59469000-59482800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:59470000-59482200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:59470800-59485200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:59471000-59480400	Weak transcription	Colonic Mucosa	Colon
15	chr15:59471000-59484000	Weak transcription	Esophagus	oesophagus
16	chr15:59471400-59480000	Weak transcription	Left Ventricle	heart
17	chr15:59471400-59482200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr15:59472600-59480600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:59473400-59482200	Weak transcription	Spleen	Spleen
20	chr15:59474000-59483400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:59474200-59479800	Weak transcription	Brain Substantia Nigra	brain
22	chr15:59474200-59480000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:59474400-59480000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:59474400-59482400	Weak transcription	HepG2	liver
25	chr15:59474400-59483800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:59474400-59484600	Weak transcription	Colon Smooth Muscle	Colon
27	chr15:59474800-59479800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr15:59475000-59479800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr15:59475000-59483000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:59475000-59483000	Strong transcription	NHEK	skin
31	chr15:59475200-59480000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:59475200-59480000	Weak transcription	Lung	lung
33	chr15:59475200-59480600	Strong transcription	HSMM	muscle
34	chr15:59475200-59486800	Weak transcription	Pancreas	Pancrea
35	chr15:59475200-59503200	Strong transcription	Liver	Liver
36	chr15:59475400-59479800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:59475400-59479800	Weak transcription	Primary B cells from cord blood	blood
38	chr15:59475400-59479800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr15:59475400-59479800	Weak transcription	Psoas Muscle	Psoas
40	chr15:59475400-59479800	Weak transcription	NHLF	lung
41	chr15:59475400-59480000	Weak transcription	Aorta	Aorta
42	chr15:59475400-59485200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:59475600-59480000	Weak transcription	Fetal Muscle Leg	muscle
44	chr15:59475800-59479800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:59475800-59483800	Strong transcription	Hela-S3	cervix
46	chr15:59475800-59498200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr15:59475800-59517800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr15:59476000-59488000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:59476200-59490600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr15:59476400-59482800	Strong transcription	NHDF-Ad	bronchial

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